Also known as mucopolysaccharidosis III, HEPARAN SULFATE SULFATASE DEFICIENCY, MPS IIIA - Sanfilippo syndrome A, MPS IIIB - Sanfilippo syndrome B, MPS IIIC - Sanfilippo syndrome C, MPS IIID - Sanfilippo syndrome D, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder)
mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).